ADAR

adenosine deaminase RNA specific

Summary

This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

Known Variants1,188 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs557875632	1:154,554,139	G/T	—	—
rs539051807	1:154,554,639	C/T	—	benign
rs1019588923	1:154,554,646	C/T	—	uncertain significance
rs112827019	1:154,554,659	G/A	—	benign
rs559398617	1:154,554,696	G/A	—	uncertain significance
rs367964862	1:154,554,965	G/A	—	uncertain significance
rs200367762	1:154,554,966	C/T	—	uncertain significance
rs140535856	1:154,555,083	G/A	—	benign
rs1696482158	1:154,555,129	A/G	—	uncertain significance
rs1696483286	1:154,555,148	A/G	—	uncertain significance
rs571724294	1:154,555,249	C/T	—	benign
rs1198048286	1:154,555,363	A/C	—	uncertain significance
rs1228582826	1:154,555,411	T/C	—	uncertain significance
rs1127326	1:154,555,492	T/C	—	benign
rs748291356	1:154,555,531	A/C	—	uncertain significance
rs886045322	1:154,555,554	G/A	—	uncertain significance
rs886045323	1:154,555,570	G/C	—	uncertain significance
rs530015999	1:154,555,668	A/T	—	benign
rs886045324	1:154,555,716	A/C	—	uncertain significance
rs9616	1:154,555,733	A/T	—	benign
rs967668970	1:154,555,828	G/C	—	uncertain significance
rs144500439	1:154,555,846	C/A	—	benign
rs886045325	1:154,555,876	T/G	—	uncertain significance
rs201602333	1:154,555,885	G/A	—	likely benign
rs550673541	1:154,555,938	C/T	—	uncertain significance
rs1385402270	1:154,555,946	T/C	—	uncertain significance
rs1237025828	1:154,555,960	T/C	—	uncertain significance
rs1127317	1:154,556,040	T/G	—	benign
rs1696549699	1:154,556,061	G/A	—	uncertain significance
rs931843098	1:154,556,090	G/A	—	uncertain significance
rs886045326	1:154,556,178	A/G	—	uncertain significance
rs886045327	1:154,556,246	G/C	—	uncertain significance
rs1127314	1:154,556,266	A/G	—	benign
rs1485739737	1:154,556,293	G/A	—	uncertain significance
rs34167604	1:154,556,339	G/T	—	benign
rs147862510	1:154,556,344	T/G	—	benign
rs140910871	1:154,556,384	C/T	—	benign
rs149774073	1:154,556,397	C/T	—	uncertain significance
rs556661959	1:154,556,398	G/A	—	uncertain significance
rs1127313	1:154,556,425	G/A	regulatory region variant	benign
rs181589660	1:154,556,438	C/G	—	likely benign
rs145743236	1:154,556,457	C/T	—	uncertain significance
rs747246150	1:154,556,470	G/A	—	uncertain significance
rs886045328	1:154,556,533	C/T	—	uncertain significance
rs886045329	1:154,556,568	C/T	—	uncertain significance
rs1127311	1:154,556,663	A/G	—	benign
rs985271768	1:154,556,670	T/A	—	uncertain significance
rs908072891	1:154,556,692	C/T	—	uncertain significance
rs886045330	1:154,556,755	T/C	—	uncertain significance
rs185835529	1:154,556,803	A/G	—	uncertain significance
rs886045332	1:154,556,814	C/T	—	uncertain significance
rs115205788	1:154,556,869	T/A	—	benign
rs558906089	1:154,556,914	C/T	—	benign
rs886045333	1:154,556,921	G/C	—	uncertain significance
rs886045334	1:154,556,959	C/G	—	uncertain significance
rs886045335	1:154,556,965	A/C	—	uncertain significance
rs141369769	1:154,556,973	A/C	—	likely benign
rs986381538	1:154,556,981	G/A	—	uncertain significance
rs376176238	1:154,557,037	A/G	—	benign
rs886045336	1:154,557,076	A/C	—	uncertain significance
rs772429851	1:154,557,222	C/T	—	uncertain significance
rs780228174	1:154,557,257	C/G	—	benign
rs769951204	1:154,557,280	T/C	—	likely benign
rs751778442	1:154,557,290	G/C	—	uncertain significance
rs2526442425	1:154,557,298	T/G	—	uncertain significance
rs931510849	1:154,557,300	A/G	—	likely benign
rs2101556653	1:154,557,306	C/A	—	uncertain significance
rs1177879091	1:154,557,312	C/T	—	likely benign
rs867756770	1:154,557,316	T/C	—	uncertain significance
rs886045338	1:154,557,318	G/C	—	conflicting classifications of pathogenicity
rs2526442794	1:154,557,322	T/C	—	uncertain significance
rs2526442839	1:154,557,327	A/G	—	likely benign
rs1696640451	1:154,557,329	T/C	—	uncertain significance
rs2101556867	1:154,557,331	C/A	—	uncertain significance
rs2526442993	1:154,557,334	T/C	—	uncertain significance
rs2526443054	1:154,557,336	C/G	—	likely benign
rs2101556911	1:154,557,340	T/C	—	uncertain significance
rs2526443232	1:154,557,358	C/G	—	uncertain significance
rs1230118983	1:154,557,364	T/C	—	uncertain significance
rs2101556953	1:154,557,365	T/G	—	uncertain significance
rs986264460	1:154,557,379	G/C	—	uncertain significance
rs776752850	1:154,557,381	C/T	—	likely benign
rs367899281	1:154,557,382	G/A	—	uncertain significance
rs1064796761	1:154,557,386	C/T	missense variant	pathogenic
rs768173047	1:154,557,387	G/A	—	likely benign
rs2526443865	1:154,557,389	A/C	—	uncertain significance
rs1381168024	1:154,557,392	C/G	—	uncertain significance
rs1302098873	1:154,557,394	C/T	—	uncertain significance
rs979532140	1:154,557,395	G/A	—	uncertain significance
rs2526444101	1:154,557,397	G/A	—	uncertain significance
rs2526444155	1:154,557,399	A/G	—	likely benign
rs2101557212	1:154,557,407	T/C	—	uncertain significance
rs764682423	1:154,557,415	C/A	—	uncertain significance
rs2526444539	1:154,557,416	C/G	—	uncertain significance
rs374282086	1:154,557,422	A/G	—	uncertain significance
rs368425519	1:154,557,423	G/A	—	likely benign
rs533561093	1:154,557,432	T/C	—	likely benign
rs2101557381	1:154,557,434	G/A	—	likely benign
rs146625055	1:154,557,440	T/G	—	likely benign
rs866441514	1:154,557,442	C/T	—	uncertain significance

Showing 100 of 1,188 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.